A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1008297



Internal ID7073389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:51709749..51711312hg38UCSC Ensembl
Outerchr3:51743765..51745328hg19UCSC Ensembl
Outerchr3:51718805..51720368hg18UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg384541
hg194541
hg184541
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565827
SamplesHuRef
Known GenesGRM2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1008297
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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